ClinVar Miner

List of variants in gene VMA21 reported as likely benign for X-linked myopathy with excessive autophagy

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001017980.4(VMA21):c.15T>G (p.Asp5Glu) rs765120199 0.00031
NM_001017980.4(VMA21):c.24G>A (p.Ala8=) rs752573385 0.00003
NM_001017980.4(VMA21):c.12G>A (p.Pro4=) rs1029458335 0.00002
NM_001017980.4(VMA21):c.222C>T (p.Val74=) rs757726449 0.00001
NM_001017980.4(VMA21):c.228C>A (p.Val76=) rs1420326652 0.00001
NM_001017980.4(VMA21):c.291A>G (p.Glu97=) rs1361409196 0.00001
NM_001017980.4(VMA21):c.300G>A (p.Gln100=) rs976371455 0.00001
NM_001017980.4(VMA21):c.53+18C>T rs1371007370 0.00001
NM_001017980.4(VMA21):c.54-17T>C rs760213001 0.00001
NM_001017980.4(VMA21):c.57T>C (p.Asn19=) rs1402497520 0.00001
NM_001017980.4(VMA21):c.132A>G (p.Leu44=)
NM_001017980.4(VMA21):c.164-19_164-18del rs759922939
NM_001017980.4(VMA21):c.183T>C (p.Asn61=)
NM_001017980.4(VMA21):c.231T>C (p.His77=)
NM_001017980.4(VMA21):c.258G>A (p.Val86=)
NM_001017980.4(VMA21):c.27G>C (p.Leu9=)
NM_001017980.4(VMA21):c.42T>C (p.Pro14=) rs2124119352
NM_001017980.4(VMA21):c.9C>T (p.Arg3=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.